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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs55830907

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr6:161360169 (GRCh38.p14) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
G>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.001715 (454/264690, TOPMED)
A=0.001937 (487/251484, GnomAD_exome)
A=0.001752 (385/219726, ALFA) (+ 14 more)
A=0.001911 (268/140250, GnomAD)
A=0.002002 (243/121408, ExAC)
A=0.00135 (106/78696, PAGE_STUDY)
A=0.00185 (24/13006, GO-ESP)
A=0.0019 (12/6404, 1000G_30x)
A=0.0022 (11/5008, 1000G)
A=0.0009 (4/4480, Estonian)
A=0.0010 (4/3854, ALSPAC)
A=0.0008 (3/3708, TWINSUK)
A=0.004 (4/998, GoNL)
A=0.009 (5/534, MGP)
A=0.003 (1/304, FINRISK)
G=0.5 (1/2, SGDP_PRJ)
A=0.5 (1/2, SGDP_PRJ)
Clinical Significance
Reported in ClinVar
Gene : Consequence
PRKN : Missense Variant
Publications
0 citations
Genomic View
See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 236138 G=0.998272 A=0.001728
European Sub 200530 G=0.998095 A=0.001905
African Sub 9382 G=0.9993 A=0.0007
African Others Sub 360 G=1.000 A=0.000
African American Sub 9022 G=0.9992 A=0.0008
Asian Sub 6364 G=1.0000 A=0.0000
East Asian Sub 4514 G=1.0000 A=0.0000
Other Asian Sub 1850 G=1.0000 A=0.0000
Latin American 1 Sub 804 G=1.000 A=0.000
Latin American 2 Sub 974 G=0.999 A=0.001
South Asian Sub 274 G=0.996 A=0.004
Other Sub 17810 G=0.99905 A=0.00095


Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 G=0.998285 A=0.001715
gnomAD - Exomes Global Study-wide 251484 G=0.998063 A=0.001937
gnomAD - Exomes European Sub 135412 G=0.997430 A=0.002570
gnomAD - Exomes Asian Sub 49008 G=0.99882 A=0.00118
gnomAD - Exomes American Sub 34592 G=0.99855 A=0.00145
gnomAD - Exomes African Sub 16254 G=0.99895 A=0.00105
gnomAD - Exomes Ashkenazi Jewish Sub 10080 G=1.00000 A=0.00000
gnomAD - Exomes Other Sub 6138 G=0.9977 A=0.0023
Allele Frequency Aggregator Total Global 219726 G=0.998248 A=0.001752
Allele Frequency Aggregator European Sub 190390 G=0.998088 A=0.001912
Allele Frequency Aggregator Other Sub 16376 G=0.99902 A=0.00098
Allele Frequency Aggregator Asian Sub 6364 G=1.0000 A=0.0000
Allele Frequency Aggregator African Sub 4544 G=0.9993 A=0.0007
Allele Frequency Aggregator Latin American 2 Sub 974 G=0.999 A=0.001
Allele Frequency Aggregator Latin American 1 Sub 804 G=1.000 A=0.000
Allele Frequency Aggregator South Asian Sub 274 G=0.996 A=0.004
gnomAD - Genomes Global Study-wide 140250 G=0.998089 A=0.001911
gnomAD - Genomes European Sub 75948 G=0.99770 A=0.00230
gnomAD - Genomes African Sub 42038 G=0.99910 A=0.00090
gnomAD - Genomes American Sub 13664 G=0.99656 A=0.00344
gnomAD - Genomes Ashkenazi Jewish Sub 3322 G=1.0000 A=0.0000
gnomAD - Genomes East Asian Sub 3130 G=1.0000 A=0.0000
gnomAD - Genomes Other Sub 2148 G=0.9963 A=0.0037
ExAC Global Study-wide 121408 G=0.997998 A=0.002002
ExAC Europe Sub 73354 G=0.99744 A=0.00256
ExAC Asian Sub 25164 G=0.99865 A=0.00135
ExAC American Sub 11578 G=0.99931 A=0.00069
ExAC African Sub 10404 G=0.99894 A=0.00106
ExAC Other Sub 908 G=0.998 A=0.002
The PAGE Study Global Study-wide 78696 G=0.99865 A=0.00135
The PAGE Study AfricanAmerican Sub 32512 G=0.99880 A=0.00120
The PAGE Study Mexican Sub 10810 G=0.99898 A=0.00102
The PAGE Study Asian Sub 8318 G=1.0000 A=0.0000
The PAGE Study PuertoRican Sub 7916 G=0.9975 A=0.0025
The PAGE Study NativeHawaiian Sub 4534 G=0.9982 A=0.0018
The PAGE Study Cuban Sub 4230 G=0.9974 A=0.0026
The PAGE Study Dominican Sub 3828 G=0.9974 A=0.0026
The PAGE Study CentralAmerican Sub 2450 G=0.9996 A=0.0004
The PAGE Study SouthAmerican Sub 1982 G=0.9990 A=0.0010
The PAGE Study NativeAmerican Sub 1260 G=0.9992 A=0.0008
The PAGE Study SouthAsian Sub 856 G=0.996 A=0.004
GO Exome Sequencing Project Global Study-wide 13006 G=0.99815 A=0.00185
GO Exome Sequencing Project European American Sub 8600 G=0.9974 A=0.0026
GO Exome Sequencing Project African American Sub 4406 G=0.9995 A=0.0005
1000Genomes_30x Global Study-wide 6404 G=0.9981 A=0.0019
1000Genomes_30x African Sub 1786 G=0.9989 A=0.0011
1000Genomes_30x Europe Sub 1266 G=0.9921 A=0.0079
1000Genomes_30x South Asian Sub 1202 G=1.0000 A=0.0000
1000Genomes_30x East Asian Sub 1170 G=1.0000 A=0.0000
1000Genomes_30x American Sub 980 G=1.000 A=0.000
1000Genomes Global Study-wide 5008 G=0.9978 A=0.0022
1000Genomes African Sub 1322 G=0.9985 A=0.0015
1000Genomes East Asian Sub 1008 G=1.0000 A=0.0000
1000Genomes Europe Sub 1006 G=0.9911 A=0.0089
1000Genomes South Asian Sub 978 G=1.000 A=0.000
1000Genomes American Sub 694 G=1.000 A=0.000
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.9991 A=0.0009
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.9990 A=0.0010
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.9992 A=0.0008
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.996 A=0.004
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 G=0.991 A=0.009
FINRISK Finnish from FINRISK project Study-wide 304 G=0.997 A=0.003
SGDP_PRJ Global Study-wide 2 G=0.5 A=0.5
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p14 chr 6 NC_000006.12:g.161360169G>A
GRCh37.p13 chr 6 NC_000006.11:g.161781201G>A
PRKN RefSeqGene NG_008289.2:g.1372634C>T
Gene: PRKN, parkin RBR E3 ubiquitin protein ligase (minus strand)
Molecule type Change Amino acid[Codon] SO Term
PRKN transcript variant 1 NM_004562.3:c.1204C>T R [CGT] > C [TGT] Coding Sequence Variant
E3 ubiquitin-protein ligase parkin isoform 1 NP_004553.2:p.Arg402Cys R (Arg) > C (Cys) Missense Variant
PRKN transcript variant 2 NM_013987.3:c.1120C>T R [CGT] > C [TGT] Coding Sequence Variant
E3 ubiquitin-protein ligase parkin isoform 2 NP_054642.2:p.Arg374Cys R (Arg) > C (Cys) Missense Variant
PRKN transcript variant 3 NM_013988.3:c.757C>T R [CGT] > C [TGT] Coding Sequence Variant
E3 ubiquitin-protein ligase parkin isoform 3 NP_054643.2:p.Arg253Cys R (Arg) > C (Cys) Missense Variant
PRKN transcript variant X1 XM_017010908.2:c.1318C>T R [CGT] > C [TGT] Coding Sequence Variant
E3 ubiquitin-protein ligase parkin isoform X1 XP_016866397.1:p.Arg440Cys R (Arg) > C (Cys) Missense Variant
PRKN transcript variant X2 XM_011535863.2:c.1201C>T R [CGT] > C [TGT] Coding Sequence Variant
E3 ubiquitin-protein ligase parkin isoform X2 XP_011534165.1:p.Arg401Cys R (Arg) > C (Cys) Missense Variant
PRKN transcript variant X3 XM_024446449.2:c.967C>T R [CGT] > C [TGT] Coding Sequence Variant
E3 ubiquitin-protein ligase parkin isoform X3 XP_024302217.1:p.Arg323Cys R (Arg) > C (Cys) Missense Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Allele: A (allele ID: 413736 )
ClinVar Accession Disease Names Clinical Significance
RCV000487928.16 not provided Benign-Likely-Benign
RCV001154406.2 Autosomal recessive juvenile Parkinson disease 2 Uncertain-Significance
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement G= A
GRCh38.p14 chr 6 NC_000006.12:g.161360169= NC_000006.12:g.161360169G>A
GRCh37.p13 chr 6 NC_000006.11:g.161781201= NC_000006.11:g.161781201G>A
PRKN RefSeqGene NG_008289.2:g.1372634= NG_008289.2:g.1372634C>T
PRKN transcript variant 1 NM_004562.3:c.1204= NM_004562.3:c.1204C>T
PRKN transcript variant 1 NM_004562.2:c.1204= NM_004562.2:c.1204C>T
PRKN transcript variant 2 NM_013987.3:c.1120= NM_013987.3:c.1120C>T
PRKN transcript variant 2 NM_013987.2:c.1120= NM_013987.2:c.1120C>T
PRKN transcript variant 3 NM_013988.3:c.757= NM_013988.3:c.757C>T
PRKN transcript variant 3 NM_013988.2:c.757= NM_013988.2:c.757C>T
PRKN transcript variant X1 XM_017010908.2:c.1318= XM_017010908.2:c.1318C>T
PRKN transcript variant X1 XM_017010908.1:c.1318= XM_017010908.1:c.1318C>T
PRKN transcript variant X2 XM_011535863.2:c.1201= XM_011535863.2:c.1201C>T
PRKN transcript variant X2 XM_011535863.1:c.1201= XM_011535863.1:c.1201C>T
PRKN transcript variant X3 XM_024446449.2:c.967= XM_024446449.2:c.967C>T
PRKN transcript variant X3 XM_024446449.1:c.967= XM_024446449.1:c.967C>T
E3 ubiquitin-protein ligase parkin isoform 1 NP_004553.2:p.Arg402= NP_004553.2:p.Arg402Cys
E3 ubiquitin-protein ligase parkin isoform 2 NP_054642.2:p.Arg374= NP_054642.2:p.Arg374Cys
E3 ubiquitin-protein ligase parkin isoform 3 NP_054643.2:p.Arg253= NP_054643.2:p.Arg253Cys
E3 ubiquitin-protein ligase parkin isoform X1 XP_016866397.1:p.Arg440= XP_016866397.1:p.Arg440Cys
E3 ubiquitin-protein ligase parkin isoform X2 XP_011534165.1:p.Arg401= XP_011534165.1:p.Arg401Cys
E3 ubiquitin-protein ligase parkin isoform X3 XP_024302217.1:p.Arg323= XP_024302217.1:p.Arg323Cys
Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

59 SubSNP, 16 Frequency, 2 ClinVar submissions
No Submitter Submission ID Date (Build)
1 MAYO-JAX ss77011716 Dec 06, 2007 (129)
2 US_FHS_HUMGEN ss102661417 Feb 05, 2009 (130)
3 1000GENOMES ss333786606 May 09, 2011 (134)
4 NHLBI-ESP ss342228240 May 09, 2011 (134)
5 1000GENOMES ss490938608 May 04, 2012 (137)
6 EXOME_CHIP ss491394629 May 04, 2012 (137)
7 CLINSEQ_SNP ss491899996 May 04, 2012 (137)
8 ILLUMINA ss535561004 Sep 08, 2015 (146)
9 ILLUMINA ss780856268 Sep 08, 2015 (146)
10 ILLUMINA ss783540347 Sep 08, 2015 (146)
11 EVA-GONL ss983738286 Aug 21, 2014 (142)
12 1000GENOMES ss1323177757 Aug 21, 2014 (142)
13 EVA_FINRISK ss1584050293 Apr 01, 2015 (144)
14 EVA_DECODE ss1593314681 Apr 01, 2015 (144)
15 EVA_UK10K_ALSPAC ss1617185838 Apr 01, 2015 (144)
16 EVA_UK10K_TWINSUK ss1660179871 Apr 01, 2015 (144)
17 EVA_EXAC ss1688580791 Apr 01, 2015 (144)
18 EVA_MGP ss1711149328 Apr 01, 2015 (144)
19 ILLUMINA ss1752613590 Sep 08, 2015 (146)
20 ILLUMINA ss1917813289 Feb 12, 2016 (147)
21 ILLUMINA ss1946197547 Feb 12, 2016 (147)
22 ILLUMINA ss1958969925 Feb 12, 2016 (147)
23 HUMAN_LONGEVITY ss2290262026 Dec 20, 2016 (150)
24 ILLUMINA ss2711098181 Nov 08, 2017 (151)
25 GNOMAD ss2736191292 Nov 08, 2017 (151)
26 GNOMAD ss2747742475 Nov 08, 2017 (151)
27 GNOMAD ss2847673036 Nov 08, 2017 (151)
28 AFFY ss2985394523 Nov 08, 2017 (151)
29 AFFY ss2986021681 Nov 08, 2017 (151)
30 SWEGEN ss3000312086 Nov 08, 2017 (151)
31 ILLUMINA ss3629708238 Oct 12, 2018 (152)
32 ILLUMINA ss3629708239 Oct 12, 2018 (152)
33 ILLUMINA ss3635099393 Oct 12, 2018 (152)
34 ILLUMINA ss3640806694 Oct 12, 2018 (152)
35 ILLUMINA ss3644930680 Oct 12, 2018 (152)
36 ILLUMINA ss3654154524 Oct 12, 2018 (152)
37 EGCUT_WGS ss3668250735 Jul 13, 2019 (153)
38 EVA_DECODE ss3718723034 Jul 13, 2019 (153)
39 ILLUMINA ss3744563766 Jul 13, 2019 (153)
40 ILLUMINA ss3745399305 Jul 13, 2019 (153)
41 PAGE_CC ss3771338549 Jul 13, 2019 (153)
42 ILLUMINA ss3772892605 Jul 13, 2019 (153)
43 EVA ss3824242816 Apr 26, 2020 (154)
44 SGDP_PRJ ss3866188434 Apr 26, 2020 (154)
45 NORTHRUP_AU ss3983907094 Apr 26, 2021 (155)
46 EVA ss3986366300 Apr 26, 2021 (155)
47 TOPMED ss4729542391 Apr 26, 2021 (155)
48 1000G_HIGH_COVERAGE ss5271145386 Oct 13, 2022 (156)
49 EVA ss5315207912 Oct 13, 2022 (156)
50 EVA ss5370456826 Oct 13, 2022 (156)
51 HUGCELL_USP ss5468517442 Oct 13, 2022 (156)
52 1000G_HIGH_COVERAGE ss5558479641 Oct 13, 2022 (156)
53 SANFORD_IMAGENETICS ss5641948274 Oct 13, 2022 (156)
54 EVA ss5843301389 Oct 13, 2022 (156)
55 EVA ss5848121821 Oct 13, 2022 (156)
56 EVA ss5886871927 Oct 13, 2022 (156)
57 EVA ss5935845450 Oct 13, 2022 (156)
58 EVA ss5971020411 Oct 13, 2022 (156)
59 EVA ss5971020412 Oct 13, 2022 (156)
60 1000Genomes NC_000006.11 - 161781201 Oct 12, 2018 (152)
61 1000Genomes_30x NC_000006.12 - 161360169 Oct 13, 2022 (156)
62 The Avon Longitudinal Study of Parents and Children NC_000006.11 - 161781201 Oct 12, 2018 (152)
63 Genetic variation in the Estonian population NC_000006.11 - 161781201 Oct 12, 2018 (152)
64 ExAC NC_000006.11 - 161781201 Oct 12, 2018 (152)
65 FINRISK NC_000006.11 - 161781201 Apr 26, 2020 (154)
66 gnomAD - Genomes NC_000006.12 - 161360169 Apr 26, 2021 (155)
67 gnomAD - Exomes NC_000006.11 - 161781201 Jul 13, 2019 (153)
68 GO Exome Sequencing Project NC_000006.11 - 161781201 Oct 12, 2018 (152)
69 Genome of the Netherlands Release 5 NC_000006.11 - 161781201 Apr 26, 2020 (154)
70 Medical Genome Project healthy controls from Spanish population NC_000006.11 - 161781201 Apr 26, 2020 (154)
71 The PAGE Study NC_000006.12 - 161360169 Jul 13, 2019 (153)
72 SGDP_PRJ NC_000006.11 - 161781201 Apr 26, 2020 (154)
73 TopMed NC_000006.12 - 161360169 Apr 26, 2021 (155)
74 UK 10K study - Twins NC_000006.11 - 161781201 Oct 12, 2018 (152)
75 ALFA NC_000006.12 - 161360169 Apr 26, 2021 (155)
76 ClinVar RCV000487928.16 Oct 13, 2022 (156)
77 ClinVar RCV001154406.2 Oct 13, 2022 (156)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss491899996, ss1593314681 NC_000006.10:161701190:G:A NC_000006.12:161360168:G:A (self)
35081197, 19565827, 13988983, 8634504, 46754, 5347375, 700799, 8707335, 265088, 18205414, 19565827, ss333786606, ss342228240, ss490938608, ss491394629, ss535561004, ss780856268, ss783540347, ss983738286, ss1323177757, ss1584050293, ss1617185838, ss1660179871, ss1688580791, ss1711149328, ss1752613590, ss1917813289, ss1946197547, ss1958969925, ss2711098181, ss2736191292, ss2747742475, ss2847673036, ss2985394523, ss2986021681, ss3000312086, ss3629708238, ss3629708239, ss3635099393, ss3640806694, ss3644930680, ss3654154524, ss3668250735, ss3744563766, ss3745399305, ss3772892605, ss3824242816, ss3866188434, ss3983907094, ss3986366300, ss5315207912, ss5370456826, ss5641948274, ss5843301389, ss5848121821, ss5935845450, ss5971020411, ss5971020412 NC_000006.11:161781200:G:A NC_000006.12:161360168:G:A (self)
RCV000487928.16, RCV001154406.2, 46005576, 247624662, 560018, 566919949, 9115885951, ss2290262026, ss3718723034, ss3771338549, ss4729542391, ss5271145386, ss5468517442, ss5558479641, ss5886871927 NC_000006.12:161360168:G:A NC_000006.12:161360168:G:A (self)
ss77011716, ss102661417 NT_025741.15:65950657:G:A NC_000006.12:161360168:G:A (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs55830907

Help

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

Genomic regions, transcripts, and products
Top Help

NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post761+d5e8e07